The most common recurrent copy-number variants associated with autism, developmental delay and epilepsy are flanked by segmental duplications. Complete genetic characterization of these events is ...
During the last few years, genome analyses have revealed the crucial role of segmental duplications (SDs) in triggering constitutional and also tumor chromosomal abnormalities (Sharp et al., 2006; ...
As part of recent completion of first complete, gapless sequence of a human genome by Telomere- to-Telomere consortium, researchers at UW Medicine offered first comprehensive view of highly identical, ...
PacBio has announced a new study published in Nature Communications that presents an innovative method for analyzing complex regions of the human genome, particularly segmental duplications that have ...